Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.11889/2024
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dc.contributor.authorEssawi, Osama-
dc.contributor.authorFarraj, Mohammad-
dc.contributor.authorDe Leeneer, K.-
dc.contributor.authorSteyaert, W.-
dc.contributor.authorDe Pauw, K.-
dc.contributor.authorDe Paepe, A.-
dc.contributor.authorClaes, K.-
dc.contributor.authorEssawi, Tamer-
dc.contributor.authorCoucke, P. J.-
dc.contributor.authorFarraj, Mohammad-
dc.date.accessioned2016-10-08T06:45:03Z-
dc.date.available2016-10-08T06:45:03Z-
dc.date.issued2015-1-
dc.identifier.urihttp://hdl.handle.net/20.500.11889/2024-
dc.descriptionAnne,Paepe:Ghent University Tamer,ESSAWI:Clinical Laboratory Paul,Coucke:Ghent Universityen_US
dc.description.abstractAn extensive molecular analysis of the CF transmembrane regulator (CFTR) gene was performed to establish the CFTR mutation spectrum and frequencies in the Palestinian population, which can be considered as an understudied population.We used a targeted Next Generation Sequencing approach to sequence the entire coding region and the adjacent sequences of the CFTR gene combined with MLPA analysis of 60 unrelated CF patients. Eighteen different CF-causing mutations, including one previously undescribed mutation p.(Gly1265Arg), were identified. The overall detection rate is up to 67%, and when we consider only CF patients with sweat chloride concentrations >70 mEq/L, we even have a pickup rate of 92%. Whereas p.(Phe508del) is the most frequent allele (35% of the positive cases), 3 other mutations c.2988+1Kbdel8.6Kb, c.1393-1G>A, and p.(Gly85Glu) showed frequencies higher than 5% and a total of 9 mutations account for 84% of the mutations. This limited spectrum of CF mutations is in agreement with the homozygous ethnic origin of the Palestinian population. The relative large portion of patients without a mutation is most likely due to clinical misdiagnosis. Our results will be important in the development of an adequate molecular diagnostic test for CF in Palestine-
dc.language.isoenen_US
dc.publisherResearchGateen_US
dc.subject.lcshSequence Analysis, DNA-
dc.subject.lcshCystic fibrosis - Gene factors - Palestine-
dc.subject.lcshCystic Fibrosis - Palestine-
dc.subject.lcshCystic Fibrosis - Mutation Spectrum - Palestine-
dc.titleNext generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian populationen_US
dc.typeArticleen_US
newfileds.departmentClinical Laboratoryen_US
newfileds.item-access-typeopen_accessen_US
item.fulltextWith Fulltext-
item.languageiso639-1other-
item.grantfulltextopen-
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